Entry Detail



General Information

Database ID:exR0000085
RNA Name:ABHD2
RNA Type:mRNA
Chromosome:chr15
Starnd:+
Coordinate:
Start Site(bp):89087459End Site(bp):89202355
External Links:ENSG00000140526



Disease Information

Disease Name:Down Syndrome
Disease Category:Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH ID:D004314
Type:Diseases Category/Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Alias:Syndrome, Down//Mongolism//47,XY,+21//Trisomy G//47,XX,+21//Down's Syndrome//Downs Syndrome//Syndrome, Down's//Trisomy 21//Trisomy 21, Mitotic Nondisjunction//Down Syndrome, Partial Trisomy 21//Partial Trisomy 21 Down Syndrome//Trisomy 21, Meiotic Nondisjunction



Expression Detail

GEO ID:GSE16176
Description:Expression profiles of amniotic fluid from human fetuses with Down syndrome and euploid controls
Experimental Design:Disease vs Control
Case Disease Type:Down Syndrome
Case Disease SubType:NA
Case Sample:Down Syndrome
Control Sample:Normal
Number of Case:7
Number of Control:7
Number of Samples:14





Regulatory Relationship

mRNA targets:
Gene SymbolChromosomeStart Site(bp)End Site(bp)Strand
NUP210
chr3
13316235
13420322
-
RPS21
chr20
62387103
62388520
+
RPS6KB2
chr11
67428460
67435401
+
MT-ND5
chrMT
12337
14148
+
PPIF
chr10
79347469
79355334
+
BRD2
chr6
32968594
32981505
+
MMD
chr17
55392622
55421924
-
AP3S2
chr15
89830599
89894638
-
EEF1A1
chr6
73515750
73523797
-
PABPC3
chr13
25095868
25099254
+
MKRN1
chr7
140453033
140479536
-
AC024592.3
chr19
5866171
5903787
-
SHC2
chr19
416583
460996
-
DMWD
chr19
45782947
45792845
-
RPUSD3
chr3
9837849
9844602
-
PTGIS
chr20
49503874
49568137
-
METTL2A
chr17
62423867
62450822
+
EMC3
chr3
9962537
10011116
-
NDUFA11
chr19
5891276
5904006
-
KMT2D
chr12
49018975
49059774
-
CMTM3
chr16
66603874
66613892
+
HLA-A
chr6
29941260
29945884
+
CWC27
chr5
64768930
65018750
+
CCDC174
chr3
14651746
14672659
+
ATP5F1A
chr18
46080248
46104334
-
RNF40
chr16
30761745
30776307
+
MACF1
chr1
39081316
39487177
+
HOXD4
chr2
176151550
176153226
+
TSSC4
chr11
2400488
2403878
+
SALL2
chr14
21521080
21537216
-
miRNA targets:
miRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
hsa-miR-15a-5p
chr13
50049167
50049188
-
hsa-miR-103a-3p
chr5
168560904
168560926
-
hsa-miR-107
chr10
89592756
89592778
-
hsa-miR-214-3p
chr1
172138816
172138837
-
hsa-miR-15b-5p
chr3
160404607
160404628
+
hsa-miR-195-5p
chr17
7017667
7017687
-
hsa-miR-497-5p
chr17
7017979
7017999
-
hsa-miR-423-5p
chr17
30117095
30117117
+
hsa-miR-532-3p
chrX
50003204
50003225
+
hsa-miR-541-3p
chr14
101064548
101064569
+
hsa-miR-665
chr14
100875075
100875094
+
hsa-miR-873-5p
chr9
28888925
28888945
-
hsa-miR-1294
chr5
154347153
154347174
+
circRNA targets:NA
lncRNA targets:
lncRNA SymbolChromosomeStart Site(bp)End Site(bp)Strand
AC067930.1
chr8
143579636
143580670
+
AC104257.1
chr8
131308545
131317632
+
AC079949.1
chr12
127142029
127146532
-
MUC20-OT1
chr3
195658062
195739964
+
SNAI3-AS1
chr16
88663298
88687278
+
XIST
chrX
73820649
73852723
-
Display:



Experiment Detail

GEO ID:GSE16176
Sample Source:Amniotic Fluid
Source Fraction:Supernatant
Platform:GPL570
Method:Microarray
Num of detected RNA Type:1
Num of detected RNAs of this Type:17063
Sample treatment protocol:NA
RNA Extract protocol:RNA was extracted from 10 mL AF with 30 mL TRIzol LS Reagent (Invitrogen, Carlsbad, CA) and 8 mL chloroform. After RNA extraction, RNA was purified and DNA was removed using the RNeasy® Maxi Kit, including the DNase step according to the manufacturer's protocol (QIAGEN, Valencia, CA). RNA was precipitated using 3M NaOAc and 100% ethanol, and 80% ethanol was added after 4 hours incubation at -20 °C. cDNA, synthesized from extracted RNA, was amplified and purified using the WT-Ovation™ Pico RNA Amplification System (NuGEN, San Carlos, CA) and the DNA Clean & Concentrator™-25 (Zymo Research, Orange, CA).
RNA library preparation protocol:biotin Samples were labeled using the FL-Ovation™ cDNA Biotin Module V2 (NuGEN, San Carlos, CA).



Reference

PMID:19474297
Title:Functional genomic analysis of amniotic fluid cell-free mRNA suggests that oxidative stress is significant in Down syndrome fetuses
Author:Slonim DK, Koide K, Johnson KL, Tantravahi U, Cowan JM, Jarrah Z, Bianchi DW
Journal:Proc Natl Acad Sci U S A. 2009 Jun 9;106(23):9425-9.
Description:To characterize the differences between second trimester Down syndrome (DS) and euploid fetuses, we used Affymetrix microarrays to compare gene expression in uncultured amniotic fluid supernatant samples.